Suppr超能文献

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

作者信息

Farazi Fard Mohammad Ali, Rebelo Adriana P, Buglo Elena, Nemati Hamid, Dastsooz Hassan, Gehweiler Ina, Reich Selina, Reichbauer Jennifer, Quintáns Beatriz, Ordóñez-Ugalde Andrés, Cortese Andrea, Courel Steve, Abreu Lisa, Powell Eric, Danzi Matt C, Martuscelli Nicole B, Bis-Brewer Dana M, Tao Feifei, Zarei Fariba, Habibzadeh Parham, Yavarian Majid, Modarresi Farzaneh, Silawi Mohammad, Tabatabaei Zahra, Yousefi Masoume, Farpour Hamid Reza, Kessler Christoph, Mangold Elisabeth, Kobeleva Xenia, Tournev Ivailo, Chamova Teodora, Mueller Amelie J, Haack Tobias B, Tarnopolsky Mark, Gan-Or Ziv, Rouleau Guy A, Synofzik Matthis, Sobrido María-Jesús, Jordanova Albena, Schüle Rebecca, Zuchner Stephan, Faghihi Mohammad Ali

出版信息

Am J Hum Genet. 2019 Jun 6;104(6):1251. doi: 10.1016/j.ajhg.2019.05.009.

DOI:10.1016/j.ajhg.2019.05.009
PMID:31173719
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6557723/
Abstract
摘要

相似文献

1
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet. 2019 Jun 6;104(6):1251. doi: 10.1016/j.ajhg.2019.05.009.
2
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Am J Hum Genet. 2019 Apr 4;104(4):767-773. doi: 10.1016/j.ajhg.2019.03.001. Epub 2019 Mar 28.
3
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
Brain. 2017 Feb;140(2):287-305. doi: 10.1093/brain/aww307.
4
Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
J Child Neurol. 2016 Aug;31(9):1114-9. doi: 10.1177/0883073816639718. Epub 2016 Mar 31.
5
Infantile onset of hereditary spastic paraplegia poorly predicts the genotype.
Pediatr Neurol. 2007 Jun;36(6):382-6. doi: 10.1016/j.pediatrneurol.2007.02.003.
6
Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.
Gene. 2014 Feb 15;536(1):217-20. doi: 10.1016/j.gene.2013.11.043. Epub 2013 Dec 4.
7
Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.
Eur J Neurol. 2017 May;24(5):741-747. doi: 10.1111/ene.13279. Epub 2017 Mar 22.
8
Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.
Neuromuscul Disord. 2006 Jun;16(6):387-90. doi: 10.1016/j.nmd.2006.03.009. Epub 2006 May 8.
9
A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
Eur J Neurol. 2016 Apr;23(4):763-71. doi: 10.1111/ene.12937. Epub 2016 Jan 12.
10
Hereditary spastic paraplegia 3A associated with axonal neuropathy.
Arch Neurol. 2007 May;64(5):706-13. doi: 10.1001/archneur.64.5.706.

引用本文的文献

1
Shared interactions of six neurotropic viruses with 38 human proteins: a computational and literature-based exploration of viral interactions and hijacking of human proteins in neuropsychiatric disorders.
Discov Ment Health. 2025 Feb 22;5(1):18. doi: 10.1007/s44192-025-00128-2.
2
Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling.
Zool Res. 2023 May 18;44(3):650-662. doi: 10.24272/j.issn.2095-8137.2022.281.
3
A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia.
Mol Genet Genomic Med. 2022 May;10(5):e1927. doi: 10.1002/mgg3.1927. Epub 2022 Mar 29.
4
Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia.
PLoS One. 2021 Jun 30;16(6):e0253871. doi: 10.1371/journal.pone.0253871. eCollection 2021.
5
Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.
Ann Clin Transl Neurol. 2020 Apr;7(4):486-496. doi: 10.1002/acn3.51019. Epub 2020 Mar 22.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验